C1834846[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430382	NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)	POLG (S1176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 206556	NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	POLG (R1096C)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 206548	NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	POLG (R1047W)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +5 more	GConflicting classifications of pathogenicity
Select item 587863	NM_002693.3(POLG):c.3104+3A>T	POLG	Single nucleotide variant (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +3 more	GPathogenic
Select item 422378	NM_002693.3(POLG):c.3104+2T>A	POLG	Single nucleotide variant (splice donor variant)	not provided +6 more	GLikely pathogenic
Select item 619308	NM_002693.3(POLG):c.3104+1G>A	POLG	Single nucleotide variant (splice donor variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +6 more	GPathogenic/Likely pathogenic
Select item 206470	NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)	POLG (A1033V)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +7 more	GConflicting classifications of pathogenicity
Select item 859116	NM_002693.3(POLG):c.2981+2T>G	POLG	Single nucleotide variant (splice donor variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +1 more	GLikely pathogenic
Select item 13508	NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)	POLG (A957S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GPathogenic/Likely pathogenic
Select item 279961	NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	POLG (T914P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +8 more	GPathogenic/Likely pathogenic
Select item 206529	NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)	POLG (R853Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +3 more	GPathogenic/Likely pathogenic
Select item 206528	NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	POLG (R852C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +9 more	GPathogenic
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG (G848S)	Single nucleotide variant (missense variant)	Mitochondrial disease +12 more	GPathogenic
Select item 13507	NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	POLG (W748S)	Single nucleotide variant (missense variant)	Mitochondrial disease +8 more	GPathogenic/Likely pathogenic
Select item 13513	NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	POLG (G737R)	Single nucleotide variant (missense variant)	Mitochondrial disease +9 more	GPathogenic/Likely pathogenic
Select item 280017	NM_002693.3(POLG):c.1433+1G>A	POLG	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic
Select item 206596	NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	POLG (N468D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +13 more	GConflicting classifications of pathogenicity
Select item 13496	NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	POLG (A467T)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +12 more	GPathogenic
Select item 458687	NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)	POLG (G426S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GConflicting classifications of pathogenicity
Select item 280375	NM_002693.3(POLG):c.925C>T (p.Arg309Cys)	POLG (R309C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GPathogenic
Select item 206588	NM_002693.3(POLG):c.915C>G (p.Ser305Arg)	POLG (S305R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 13497	NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	POLG (L304R)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +9 more	GPathogenic/Likely pathogenic
Select item 619447	NM_002693.3(POLG):c.824G>A (p.Arg275Gln)	POLG (R275Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 593213	NM_002693.3(POLG):c.739C>G (p.Leu247Val)	POLG (L247V)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance

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Items: 24